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<p>Constitutional <i>RUNX1</i> gene variants are associated with Familial Platelet Disorder (FPD) and predispose to a variety of hematological malignancies, included Acute Myeloid Leukemia (AML) and, albeit less frequently, Acute Lymphoblastic Leukemia (ALL). In this study, we report on a proband with primary diagnosis of AML, followed by T-ALL after transplant, and a positive familial history for leukemia over three generations. A new heterozygous germline pathogenic <i>RUNX1</i> (c.681dup, p.(Leu228ThrfsTer33)) variant was found in the proband and his affected mother.</p>

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A new c.681dup RUNX1 variant in familial leukemia

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月6日

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  • Maria Crocioni,
  • Carlotta Nardelli,
  • Anair Graciela Lema Fernandez,
  • Valentina Bardelli,
  • Valentina Pierini,
  • Caterina Matteucci,
  • Eloise Beggiato,
  • Matteo Olivi,
  • Valentina Vigliani,
  • Alessandra Pelle,
  • Giuseppe Lanzarone,
  • Cristina Mecucci

摘要

Constitutional RUNX1 gene variants are associated with Familial Platelet Disorder (FPD) and predispose to a variety of hematological malignancies, included Acute Myeloid Leukemia (AML) and, albeit less frequently, Acute Lymphoblastic Leukemia (ALL). In this study, we report on a proband with primary diagnosis of AML, followed by T-ALL after transplant, and a positive familial history for leukemia over three generations. A new heterozygous germline pathogenic RUNX1 (c.681dup, p.(Leu228ThrfsTer33)) variant was found in the proband and his affected mother.